Rubinsztein D C, Coetzee G A, van der Westhuyzen D R, Langenhoven E, Kotze M J
Department of Medical Biochemistry, University of Cape Town.
S Afr Med J. 1995 May;85(5):355-7.
The frequency of familial defective apolipoprotein B-100 (FDB) was assessed among hypercholesterolaemic Afrikaners, coloureds and Indians. Patients selected for screening did not carry any of the founder or common LDL-receptor mutations known to be associated with these groups. No FDB was detected and the mutation is therefore a rare cause of hypercholesterolaemia in these South African populations.
在高胆固醇血症的南非白人、混血人和印度人群体中评估了家族性缺陷载脂蛋白B - 100（FDB）的发生率。被选来进行筛查的患者未携带任何已知与这些群体相关的奠基者或常见低密度脂蛋白受体突变。未检测到FDB，因此在这些南非人群中，该突变是高胆固醇血症的罕见病因。
